Urate production in heterozygotes for glucose-6-phosphatase deficiency

Stormont D., Davies C. and Emmerson B.T. (1976) Urate production in heterozygotes for glucose-6-phosphatase deficiency. Clinica Chimica Acta, 71 2: 303-308. doi:10.1016/0009-8981(76)90544-1


Author Stormont D.
Davies C.
Emmerson B.T.
Title Urate production in heterozygotes for glucose-6-phosphatase deficiency
Journal name Clinica Chimica Acta   Check publisher's open access policy
ISSN 0009-8981
Publication date 1976-09-06
Sub-type Article (original research)
DOI 10.1016/0009-8981(76)90544-1
Volume 71
Issue 2
Start page 303
End page 308
Total pages 6
Subject 1303 Specialist Studies in Education
1308 Clinical Biochemistry
Abstract Urate production and excretion were studied in heterozygous parents of a child with glucose-6-phosphatase deficiency. Both parents demonstrated glucose-6-phosphatase concentrations in platelets intermediate between those in the homozygote and the normal. The miscible urate pool and turnover rate, the rate of incorporation of [14C]glycine into urate, the renal clearance of urate and the percentage excretion of labelled urate by the renal route were within the normal range in both heterozygotes, as were the serum cholesterol and tri-glyceride concentrations. Thus, a partial deficiency of glucose-6-phosphatase was not associated with the abnormalities of urate or lipoprotein metabolism which are features of homozygous glucose-6-phosphatase deficiency. Erythrocyte phosphoribosyl-pyrophosphate concentration, an increased concentration of which has been postulated as the mechanism responsible for the increased de novo purine biosynthesis in glucose-6-phosphatase deficiency, was found to be within the normal range in erythrocytes from both a homozygote and a heterozygote for this condition.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: Scopus Import
 
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